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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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Id | http://identifiers.org/omim/143100
http://identifiers.org/omim/143100
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Preferred Name | Huntington disease |
Definitions |
(HD) - A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen.
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Synonyms |
HD
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | (HD) - A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. |
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altLabel |
HD
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prefLabel |
Huntington disease
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notation |
OMIM:143100
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id |
OMIM:143100
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subClassOf | |
type |
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